Down syndrome: a review of ocular manifestations

Abstract

Down syndrome is the most common genetically mediated intellectual disability. Although many physiologic and pathologic features of Down syndrome are discussed at length in the literature, the ocular manifestations of Down syndrome have seldom been discussed in a comprehensive fashion. Given that Down syndrome has ocular manifestations from the front to the back of the eye, it is important for physicians to become familiar with these manifestations, especially given the prevalence of Down syndrome. This review aims to discuss the varied ophthalmologic manifestations of Down syndrome – including strabismus, amblyopia, nystagmus, accommodation deficits, nasolacrimal duct obstruction, keratoconus, optic nerve pathology, neoplastic disease, and retinal pathology – to facilitate better care and visual outcomes in this important patient population.

From neurodevelopment to neurodegeneration: utilizing human stem cell models to gain insight into Down syndrome

“…The neurological features of DS implicate all of the major brain cell types including neural progenitor cells ( Stagni et al, 2018 ), neurons ( Guidi et al, 2008 ; Bartesaghi, 2022 ), astrocytes ( Zdaniuk et al, 2011 ; Ponroy Bally and Murai, 2021 ), oligodendrocytes ( Olmos-Serrano et al, 2016 ), and microglia ( Flores-Aguilar et al, 2020 ), and a subset of brain regions such as the cerebral cortex ( Yun et al, 2021 ), hippocampus ( Guidi et al, 2008 ; Koenig et al, 2021 ), cerebellum ( Guidi et al, 2011 ), and retina ( Haseeb et al, 2022 ). In this review, we will describe currently available methods for 2D- and 3D-differentiation of human stem cells into these cell types and brain regions, the work that has been done related to DS using stem cell modeling approaches, future questions that may be addressed with emerging technologies, and discuss the limitations of these models.…”

Is the prolongation latency of visual evoked potentials a pathological sign in children with Down’s syndrome without ocular abnormalities? Case–control study of children with Down’s syndrome

“…In children with DS such degradation of the retinal image occurs during a sensitive period of visual development, making them at particularly high risk of developing amblyopia. 4 To avoid the onset of the disease and to ensure its early diagnosis and treatment, it is important that ophthalmologists monitor carefully visual development of these children by measuring spatial vision, such as acuity. The assessment by standard acuity tests depends on the cognitive ability of the patient and the experience of the examiner.…”

“…Down's syndrome (DS) is caused by trisomy 21, the most common genetic cause of developmental delay and intellectual disability. Ocular abnormalities such as refractive errors of the eye and strabismus, [1][2][3][4] as well as inaccurate accommodation, 5 6 are more prevalent in people with DS than in healthy population. These abnormalities affect visual function by blurring or distorting the retinal image.…”

“…These abnormalities affect visual function by blurring or distorting the retinal image. In children with DS such degradation of the retinal image occurs during a sensitive period of visual development, making them at particularly high risk of developing amblyopia 4. To avoid the onset of the disease and to ensure its early diagnosis and treatment, it is important that ophthalmologists monitor carefully visual development of these children by measuring spatial vision, such as acuity.…”

Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient

“…DS is characterized by mental retardation, distinct facial features, and potential systemic involvement. DS patients often have neurologic problems; eye abnormalities and decreased visual acuity; hearing loss; cardiac anomalies and related pulmonary disorders; renal anomalies; thyroid dysfunction; diabetes; immunologic deficit due to a decreased number of T and B lymphocytes; myeloid leukemia; growth delay; obesity; and others [5][6][7][8]. DS newborns exhibit a significantly higher incidence of congenital malformations, including microphthalmia and congenital cataracts [9].…”